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Ency. home > Disease > H > Hereditary urea cycle abnormality

Hereditary urea cycle abnormality    See images

Overview | Symptoms | Treatment | Prevention

Alternative names:

Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality

Symptoms

  • disliking protein-containing foods
  • decreased food intake
  • nausea, vomitting
  • change in clarity of mind, confusion
  • increased sleepiness, difficulty arousing person
  • coma

Signs and Tests

  • elevated blood ammonia level
  • abnormal pattern of blood and urine amino acids
  • abnormal level of orotic acid in blood or urine
  • normal level of acid in blood
  • low level of enzyme activity in liver biopsy
  • abnormal genetic test result, mutation(s) present in one of genes for the proteins of the urea cycle
  • MRI of CT scan may show swelling of brain

Ency. home > Disease > H > Hereditary urea cycle abnormality

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